Dados do Trabalho

Título

NEUROLOGIC COMPLICATIONS OF 10Q DELETION SYNDROME ASSOCIATED WITH TRISOMY 17Q: A CASE REPORT

Apresentação do caso

YSM, 2 years and 9 months old, female, born at term by vaginal delivery. During pregnancy, the mother had anemia in the fifth month. At birth, Apgar 7/8 and head circumference (HC) 34 cm were registered, having to be hospitalized for 1 day due to hypertelorism, bilateral palmar crease variations, nose base flattening, oblique palpebral fissures and micrognathia, generating suspicion of Pierre Robin Syndrome. At 4 months, she took the Brainstem Auditory Evoked Potential Test, which resulted in no response in the right ear. At 10 months, she underwent cranial magnetic resonance imaging, which had a normal result, although microcephaly and neuropsychomotor developmental delay (NPMD) were observed. At 11 months, she was evaluated with hypotonia, craniofacial disproportion, scaphocephaly, in addition to showing little interest in toys, fixed gaze and low social interaction. At 25 months, through the CGH-array examination, which displayed a deletion of 10q26.3 and duplication of 17q25.3, also showing poor social contact, unmotivated laughter, hypotonia, stereotypies and global ataxia with gait with extended base. At 33 months of age, she remains with NPMD, does not speak, sits in "W", has sensory hypersensitivity, head forward and preference for the bear position.

Discussão

The case describes complications related to the 10q deletion syndrome (D10q), a pathology with a prevalence <1/1,000,000, related to the presence of facial dysmorphia, microcephaly, ataxia, stereotypies, deafness, speech delay, hypotonia, micrognathia and PMDN, symptoms detected in the patient, who still has a risk of developing scoliosis, short stature, genitourinary alterations and intellectual disability. It is also noteworthy that the NPMD and the behavior resulting from this deletion in 10q26 is compatible with the symptoms of autism. Furthermore, such symptomatology is also corroborated with Trisomy 17q, which has similar phenotypic characteristics to D10q, except for its 60% penetrance of cardiac anomalies.

Comentários finais

Given the number of complications that both genetic alterations entail, it is necessary that such mutations be further studied by the scientific community, as these genes substantially affect neurodevelopment. Thus, early diagnosis helps to develop a better therapeutic intervention and improves the quality of life of patients and their families.

Referências (se houver)

Palavras Chave

Chromosome Deletion; Chromosome Duplication; Abnormalities, Multiple; Neurodevelopmental Disorders; Autism Spectrum Disorder

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Eu, Gabrielle Miranda Magalhães Pinto, autor responsável pela submissão do manuscrito intitulado "Neurologic complications of 10q deletion syndrome associated with trisomy 17q: A Case Report" e todos os coautores que aqui se apresentam, declaramos que não possuímos conflitos de interesse de nenhuma ordem.

Área

Neurogenética